| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.88139153C>G | CA385988629 | CEP290 | c.289G>C (p.Glu97Gln) n.516G>C c.187G>C (p.Glu63Gln) c.148G>C (p.Glu50Gln) n.633G>C | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.88139153C>A | CA144391 | CEP290 | c.289G>T (p.Glu97Ter) n.516G>T c.187G>T (p.Glu63Ter) c.148G>T (p.Glu50Ter) n.633G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.88139153C>T | CA385988632 | CEP290 | c.289G>A (p.Glu97Lys) n.516G>A c.187G>A (p.Glu63Lys) c.148G>A (p.Glu50Lys) n.633G>A | dbSNP gnomAD v4 |
| 12 | g.88139153C= | CA2052934089 | CEP290 | c.289G= (p.Glu97=) n.516G= c.187G= (p.Glu63=) c.148G= (p.Glu50=) n.633G= | dbSNP |